Highlights on Genomics Applications for Lysosomal Storage Diseases.
Biomarkers
Child
Child, Preschool
Enzyme Replacement Therapy
/ methods
Genetic Therapy
/ methods
Genome, Human
Genomics
/ methods
Hematopoietic Stem Cell Transplantation
/ methods
Humans
Infant
Infant, Newborn
Lysosomal Storage Diseases
/ diagnosis
Lysosomes
/ metabolism
Neonatal Screening
/ methods
diagnosis
genomics
lysosomal storage diseases
newborn screening
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
14 08 2020
14 08 2020
Historique:
received:
15
07
2020
revised:
10
08
2020
accepted:
11
08
2020
entrez:
23
8
2020
pubmed:
23
8
2020
medline:
20
3
2021
Statut:
epublish
Résumé
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome. Although the cellular pathogenesis of LSDs is complex and still not fully understood, the approval of disease-specific therapies and the rapid emergence of novel diagnostic methods led to the implementation of extensive national newborn screening (NBS) programs in several countries. In the near future, this will help the development of standardized workflows aimed to more timely diagnose these conditions. Hereby, we report an overview of LSD diagnostic process and treatment strategies, provide an update on the worldwide NBS programs, and discuss the opportunities and challenges arising from genomics applications in screening, diagnosis, and research.
Identifiants
pubmed: 32824006
pii: cells9081902
doi: 10.3390/cells9081902
pmc: PMC7465195
pii:
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
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